L15R (p.Leu15Arg) variant of LDLR (Low-density lipoprotein receptor)
L15R (p.Leu15Arg) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
L15R (p.Leu15Arg) variant details
- p.Leu15Arg
- rs879254390
- ClinGen CA404071695
- ClinVar RCV001946479
- Ensembl rs879254390
- Likely pathogenic
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.38
- MetaLR 0.79
- MetaSVM 0.58
- PolyPhen-2 0.01
- SIFT 0.12
- MutPred 0.67
- ClinVar: Likely pathogenic (Familial hypercholesterolemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)